Monoallelic variants in BRSK1 are associated with a neurodevelopmental disorder with or without epilepsy.

Monoallelic variants in BRSK1 cause a neurodevelopmental disorder with variable symptoms in humans, with partial loss-of-function alleles impairing neuronal development in flies.

• Why it matters: Understanding the genetic basis of neurodevelopmental disorders is crucial for diagnosis and potential therapies, especially when variants affect key neuronal genes like BRSK1.
• What they did: Researchers identified nine individuals with heterozygous BRSK1 variants through genomic analysis and modeled three missense variants in Drosophila to assess their functional impact.
• The result: Findings show heterozygous BRSK1 loss causes neurodevelopmental symptoms, and the variants partially impair neuronal function in flies, highlighting their pathogenic role and phenotypic variability.